Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

1489 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799949 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.2082C>T r.(?) p.Ser694Ser - Unknown - NA g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - PubMed: Augello 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2082C>T r.(?) p.Ser694Ser - Unknown - NA g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2082C>T r.(?) p.Ser694Ser - Unknown - NA g.41245466G>A g.43093449G>A 2201C/T (S694S) - BRCA1_000183 - PubMed: Shattuck-Eidens 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2082C>T r.(=) p.(=) - Unknown kConFab benign g.41245466G>A g.43093449G>A 2201 C>T (S694S) - BRCA1_000183 - kConFab variant classification: PM - - Germline - 469/1658 - - - DNA SEQ - - cancer, breast - - 469 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 469 kConFab - Heather Thorne
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - relative of Pat4b - - Argentina European - - - - 2 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European, mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - relative of Pat43a/b/d/e - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A heterozygous - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(=) p.(=) - Unknown - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2082C>T r.(?) p.(=) - Both (homozygous) - benign g.41245466G>A g.43093449G>A 2201C>T-Ser694Ser (S694S) - BRCA1_000183 >100 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >200 families (BRCA1/2 screening) - - Greece - - - - - 300 Florentia Fostira
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2082C>T r.(?) p.(Ser694=) - Unknown ENIGMA benign g.41245466G>A g.43093449G>A S694S - BRCA1_000183 - - - rs1799949 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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